A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation

Jo, Young Eun; Choi, Yong Jun; Kim, Yun Kyung; Ahn, Sang Mi; Jung, Sun Hye; Kim, Hae Jin; Kim, Dae Jung; Lee, Kwan Woo; Hong, Ji Hee; Jeong, Sun Young; Kim, Hyon J.; Chung, Yoon Sok

doi:10.3803/jkes.2007.22.1.68

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…We first reviewed the medical records of 14 unrelated MEN1 patients who had germline mutations of the MENIN gene confirmed in Severance Hospital (Seoul, Korea). We evaluated the extended data from a total of 28 unrelated patients including 14 cases in the present study and 14 cases previously reported with genetic confirmation in Korea by searching on PubMed and KoreaMed [ 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ]. The clinical characteristics of six family members were collected for MENIN germline mutation carriers to analyze any relationship between genotypes and phenotypes.…”

Section: Methodsmentioning

confidence: 99%

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1

et al. 2014

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BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a familial syndrome characterized by the parathyroid, pancreas and pituitary tumors. Parathyroid tumors are the most common clinical manifestations, occurring in more than 90% of MEN1 patients. Heterozygous germline mutations of the MENIN gene underlie the tumorigenesis in MEN1 and epigenetic alterations along with germline mutations may contribute to tumorigenesis. Here, we investigated the associations between genotype and phenotype in Korean MEN1 patients.MethodsWe analyzed medical records from 14 unrelated MEN1 patients who had newly confirmed MENIN germline mutations, together with 14 previous reports in Korea. Aberrant DNA methylations were also examined in MEN1-related parathyroid tumors using the Infinium HumanMethylation 450 BeadChip.ResultsTotal 28 germline mutations of MENIN were relatively highly concentrated in exons 7 and 8 compared to previous reports from Western countries. Six mutations (c.111dupT/p.S38Ffs*79, c.225_226insT/p.T76Yfs*41, c.383_398del16/p.S128Tfs*52, c.746dupT/p.H250Afs*20, c.1150G>T/p.E384*, and c.1508G>A/p.G503N) were newly found in the present study. Of interest, four patients (15%) showed unusual initial presentations and three patients were diagnosed incidentally at the general medical checkup. We also found three distinct sites in exon 2 of MENIN were significantly hypomethylated in the MEN1 parathyroid tumors, comparing correspondent blood samples.ConclusionWe also have found a lack of genotype/phenotype correlation in Korean MEN1 patients. There were not a few unusual initial manifestations in MEN1 patients, thus, genetic testing for the MENIN germline mutations can provide important information for the better prognosis. Further studies are warranted to investigate altered DNA methylations in the MENIN gene involved in tumorigenesis.

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Section: Methodsmentioning

confidence: 99%

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1

et al. 2014

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Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors

Chae

Kim

et al. 2009

J Korean Surg Soc

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Purpose: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors. Methods: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data. Results: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors.

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A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation

Cited by 2 publications

References 18 publications

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1

Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors

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